| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209633069C>A | CA344594859 | LAMB3 | c.628+1G>T (n.628+1G>T) c.436+1G>T (n.436+1G>T) | dbSNP |
| 1 | g.209633069C>T | CA16040701 | LAMB3 | c.628+1G>A (n.628+1G>A) c.436+1G>A (n.436+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |